NIH selects Chicago institutions for national Down syndrome health research initiative

The National Institutes of Health (NIH) has selected the Institute for Translational Medicine’s (ITM) sites at Advocate Health Care and the University of Chicago as part of a national team aiming to improve the health of individuals with Down syndrome, the most common genetic cause of intellectual disability in the U.S.

The NIH Investigation of Co-occurring Conditions Across the Lifespan to Understand Down Syndrome (INCLUDE) project is a trans-NIH effort funding research for critical health and quality-of-life needs for individuals with Down syndrome, while also investigating risk and resilience factors for common diseases that they share with those who do not have Down syndrome – such as Alzheimer’s disease, dementia, autism, congenital heart disease and diabetes.

The Institute for Translational Medicine (ITM), an NIH-funded health research accelerator network in Chicago, is one of 25 institutions that received an NIH award through the INCLUDE project.

“Advocate Medical Group Adult Down Syndrome Center, on the campus of Advocate Lutheran General Hospital, is one of the largest adult Down syndrome centers in the U.S., and combining its clinical strengths with the big data expertise at the University of Chicago set the stage for a perfect collaboration,” said Julian Solway, MD, Director of the ITM and UChicago’s Walter L. Palmer Distinguished Service Professor of Medicine and Pediatrics.

The ITM will use its $500,000 award—divided between Advocate Health Care and the University of Chicago—to harness the power of big data analytics to identify suspected co-occurring conditions among individuals with Down syndrome. The goal is to use that knowledge to identify new treatments and tailored ways to help people with and without Down syndrome based on the types of conditions that they have.

“Because Down syndrome is caused by the presence of an extra chromosome 21, there should be significant differences in the biology of these patients that are not seen in the general population,” said Andrey Rzhetsky, PhD, the UChicago Edna K. Papazian Professor of Medicine and Human Genetics who is spearheading the big data analysis. “Investigating massive datasets is a bit like a criminal investigation. “There’s adventure and you can find things that you didn’t expect.”

This study will dive into more than 175 million electronic medical records to uncover new information about Down syndrome and work with Advocate Health Care’s clinical side to verify and apply the benefits of the findings.

“We’ve made tremendous strides to increase the life expectancy of adults with Down syndrome during the last half century, but more research is needed to determine best health care practices and treatments for common age-associated conditions,” said Brian Chicoine, MD, lead researcher for Advocate Health Care and cofounder and medical director of the Advocate Medical Group Adult Down Syndrome Center. “Through our research and comprehensive analyses of large global datasets, we hope to discover patterns of co-occurring diseases so that we may ultimately improve quality of life for individuals with Down syndrome.”

Working with the Advocate Research Institute, researchers will collate data sets to compare the incidence of co-occurring conditions, examine differences found, and evaluate factors affecting these differences.

“We‘re excited to be a part of this NIH initiative that will inform the development of health care guidelines, promote best practices, and direct further research that may benefit both individuals with and without Down syndrome,” said Denise Angst, PhD, RN, vice president of Advocate Research Institute. “It is a great example of clinical and big data experts working together to uncover new ways to improve health care.”

Learn more about the INCLUDE project here.